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Health Problems in Adults with Prader-Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and

Anna G W Rosenberg1,2,3,4, Charlotte M Wellink1, Juan M Tellez Garcia1

  • 1Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.

Journal of Clinical Medicine
|July 27, 2022
PubMed

Insights

Prader-Willi syndrome (PWS) genetic subtypes show distinct health issues. Deletions (DEL) are linked to higher BMI and scoliosis, while maternal uniparental disomy (mUPD) is associated with more psychotic episodes.

Area of Science:

  • Genetics
  • Endocrinology
  • Psychiatry

Background:

  • Prader-Willi syndrome (PWS) is a rare genetic disorder affecting chromosome 15q11.2-q13.
  • Common genetic causes include paternal deletion (DEL) and maternal uniparental disomy (mUPD).
  • Research often overlooks physical health differences among PWS genetic subtypes.

Purpose of the Study:

  • To compare physical health problems and clinical features in adults with PWS based on genetic subtypes (DEL vs. mUPD).
  • To investigate differences between DEL type 1 and type 2 deletions.

Main Methods:

  • Cross-sectional study comparing adults with PWS caused by DEL (N=65) and mUPD (N=65).
  • Includes a meta-analysis of existing data.
  • Analyzes body mass index (BMI), scoliosis, and psychotic episodes.

Main Results:

  • Adults with DEL had a significantly higher BMI (2.79 kg/m2 higher, p=0.001) and higher prevalence of scoliosis (80% vs. 58%, p=0.04) compared to mUPD.
  • No significant physical health differences were found between DEL-1 and DEL-2 subtypes.
  • Psychotic episodes were more prevalent in the mUPD group (44% vs. 9%, p<0.001).

Conclusions:

  • Physical health outcomes like BMI and scoliosis differ between PWS genetic subtypes (DEL vs. mUPD).
  • Psychological health, specifically psychotic episodes, is more common in the mUPD subtype.
  • Genetic subtypes of PWS present with distinct physical and psychological health profiles.

Keywords:
Prader–Willi syndromegenetic variationgeneticsgenotypehealth problemsmutismpaternal deletionphenotypeuniparental disomy

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